Biomarkers and screening
Advice on research activities
The term ‘biomarker’ in general refers to a specific molecule, gene or characteristic from which a physiological process can be identified. Biomarkers are typically coded in one of three research activity groups:
2 Aetiology: Where markers may be first identified in epidemiology studies or further assessed to determine how the molecule/gene/etc. contribute to the cause, risk or development of disease.
4 Detection and Diagnosis: Where studies of biomarker discovery and biomarkers screening for the purposes of disease diagnosis or prognosis are usually within 4 Detection and Diagnosis.
5 Treatment Development: Specifically where markers are used to develop treatments. However if looking at pharmacogenetic studies in pre-clinical settings or model systems, most commonly in pharmacogenetic studies (5.1) it should be classified in 5 Treatment Development. Identification of receptor pathways should be classified in 2 Aetiology.
Examples:
- The initial discovery of BRCA1 gene mutations as potential risk factors for breast cancer in epidemiology studies and would be coded in 2 Aetiology.
- Characterisation of BRCA1 gene, protein and pathway in cancer would likewise be coded in 2 Aetiology.
- The pre-clinical development and subsequent clinical application of techniques for screening for BRCA1 mutations to determine diagnosis or prognosis would be coded 4 Detection & Diagnosis.
- Assessment of BRCA1 expression for pharmacogenetics in drug development would be coded 5.1 Treatment Development – Pharmaceuticals.
Main inclusion criteria
Testing and evaluation of markers and technologies in humans for use in detection, diagnosis, prediction, prognosis and monitoring in clinical, community or applied settings including
- assessment of sensitivity, efficacy, specificity, predictive and prognostic value, reproducibility and safety
- medical devices, imaging, diagnostic and predictive tests
- evaluation of diagnostic models, methods and methodologies in clinical or applied settings
Advice on research activities
Includes clinical and applied testing in humans, once verified in the laboratory, often in a trial or studies that involve a group of people.
Excludes pre-clinical investigation of potential diagnostics, which can include patient samples if they are being used in the diagnostic development phase. Such studies should be coded 4.1 Marker discovery.
Official terminology
|
Full name of code |
Short name | Unique ID |
| 4.2 Evaluation of markers and technologies | 4.2 Marker evaluation |
HRCS_RA_4_2 |
Related external links
Main inclusion criteria
Discovery, development and preclinical testing of novel markers (that may be derived from patient samples) and technologies for use in detection, diagnosis, prediction, prognosis and monitoring including
- biological and psychological markers
- diagnostic and monitoring devices, imaging, scanning, predictive and diagnostic tests
- development and characterisation of models
- diagnostic measures and methodologies
Advice on research activities
Note the word ‘discovery’ in this context is a medical term referring to determining if a marker is suitable for use in diagnosis/prognosis. This is distinct from the primary identification of candidates that may be potentially used as diagnostic markers, which would be coded in 2 Aetiology.
Therefore this code is suitable for use if potential diagnostic targets have already been identified in preliminary aetiological studies characterising specific pathways and these potential markers are now being verified in the discovery and testing stage.
Includes pre-clinical investigation of potential diagnostics, however these studies can include patient samples if they are being used in the diagnostic development phase.
Excludes clinical and applied testing in humans, once verified in the laboratory, often in a trial or studies that involve a group of people. Such studies should be coded 4.2 Marker evaluation.
Official terminology
|
Full name of code |
Short name | Unique ID |
| 4.1 Discovery and preclinical testing of markers and technologies | 4.1 Marker discovery |
HRCS_RA_4_1 |
Related external links
Common Scientific Outline (CSO) – 4.1 Technology Development and/or Marker Discovery
Main inclusion criteria
Discovery and development of therapeutic interventions and testing in model systems and preclinical settings.
Advice on research activities
Should be used for development and characterisation of treatments and includes patient samples if they are being used in the treatment development phase.
Treatment development is not just ‘bench to bedside’ but can also be ‘bedside to bench’.
Official terminology
|
Full name of code |
Short name | Unique ID |
| 5 Development of treatments and therapeutic interventions | 5 Treatment development |
HRCS_RAG_5 |
Related external links
Common Scientific Outline (CSO) – 5 Treatment
Summary of Treatment Development sub-codes
5.1 Pharmaceuticals
Identification and development of pharmaceutical small molecules, therapeutic vaccines, antibodies and hormones including:
- drug screening and development of delivery systems
- mechanism of action including side effects and drug resistance
- pharmacogenetics, prediction of genetic variation and responses to drugs
- testing in in vitro and in vivo model systems
5.2 Cellular and gene therapies
Discovery and development of cellular, tissue and gene therapies including:
- gene therapy, stem cells therapy, in vitro fertilisation and tissue engineering
- Fecal microbiota transplantation (FMT)
- development of delivery systems
- development of culture systems
- testing in in vitro and in vivo model systems
5.3 Medical devices
Discovery and development of medical devices including:
- implantable devices, mobility aids, dressings, medical equipment and prostheses
- biological safety assessments and investigation of adverse events
- sterilisation and decontamination of equipment or surfaces
- testing in in vitro and in vivo model systems
5.4 Surgery
Development of surgical, obstetric and dental interventions including:
- histocompatability, transfusions, transplantations including xenograft studies and bone marrow transplants
- mechanisms of recovery, tolerance, rejection and side effects including infection
- testing in in vitro and in vivo model systems
5.5 Radiotherapy and other non-invasive therapies
Discovery and development of interventions including:
- radiobiology, radiotherapy, radioimmunotherapy, radiosensitisers, microwaves, ultrasound, laser and phototherapy
- development of delivery systems
- investigation of mechanisms of action and side effects
- testing in in vitro and in vivo model systems
5.6 Psychological and behavioural
Development of psychological and behavioural interventions including:
- cognitive behavioural therapy, electro-convulsive therapy, counselling, therapy and social interventions
- testing in model systems
5.7 Physical
Development of physical interventions including:
- physical therapies, physiotherapy, occupational therapy, speech therapy, dietetics, exercise and osteopathy
- mechanisms of action
- testing in model systems
5.8 Complementary
Discovery and development of complementary approaches to conventional medical therapies including:
- hypnotherapy, meditation, massage, acupuncture and homeopathy
- mechanisms of action
- testing in model systems
5.9 Resources and infrastructure (treatment development)
- development and/or distribution of resources for general use by the research community including equipment, cell lines, tissue and DNA banks
- infrastructure support for networks, consortia and centres
Main inclusion criteria
Discovery, development and evaluation of diagnostic, prognostic and predictive markers and technologies
Advice on research activities
Includes research where the main aim is to develop diagnostic or prognostic tests for clinical use.
Excludes development of lab techniques and tools for basic research.
Excludes basic research using imaging or detection techniques in the methodology, where the primary aim of the research is not to develop clinical tests.
Official terminology
|
Full name of code |
Short name | Unique ID |
| 4 Detection, screening and diagnosis | 4 Detection |
HRCS_RAG_4 |
Related external links
Common Scientific Outline (CSO) – 4 Early Detection, Diagnosis, and Prognosis
Summary of Detection sub-codes
4.1 Discovery and preclinical testing of markers and technologies
Discovery, development and preclinical testing of novel markers (that may be derived from patient samples) and technologies for use in detection, diagnosis, prediction, prognosis and monitoring including:
- biological and psychological markers
- diagnostic and monitoring devices, imaging, scanning, predictive and diagnostic tests
- development and characterisation of models
- diagnostic measures and methodologies
4.2 Evaluation of markers and technologies
Testing and evaluation of markers and technologies in humans for use in detection, diagnosis, prediction, prognosis and monitoring in clinical, community or applied settings including:
- assessment of sensitivity, efficacy, specificity, predictive and prognostic value, reproducibility and safety
- medical devices, imaging, diagnostic and predictive tests
- evaluation of diagnostic models, methods and methodologies in clinical or applied settings
4.3 Influences and impact
Studies investigating impact of screening and factors affecting uptake including:
- attitudes and beliefs including cultural and religious practices
- issues relating to gender, age and ethnicity
- genetic counselling and decision making
- psychological, social and economic factors
- development, implementation and evaluation of interventions to promote screening including policy, education and communication
4.4 Population screening
Studies investigating population screening programmes including:
- feasibility studies, pilot studies and trials
- evaluation of effectiveness, benefits and economic evaluation
- impact on health services and policy issues
- models of population surveillance
4.5 Resources and infrastructure (detection)
Development and/or distribution of resources for use by the research community including:
- equipment, cell lines, tissue and DNA banks, and informatics systems
- infrastructure support for research trials, networks, consortia and centres